Idiopathic infantile arterial calcification is a rare disorder which is generally
fatal and characterized by extensive calcification of large- and medium-sized arteries.
The diagnosis is usually made at autopsy or in the neonatal period, when there is
cardiac failure. Prenatal diagnosis is possible in the latter half of pregnancy when
there are hyperechoic vessel walls, hypertrophied ventricular musculature, and nonimmune
fetal hydrops. There are only few cases reported to have been diagnosed antenatally.
The inheritance is autosomal recessive and most of the affected individuals have mutations
in ENPP1 and ABCC6 genes. Molecular genetic tests and genetic counseling should be
offered to provide early prenatal diagnosis in subsequent pregnancies.
Keywords
Idiopathic infantile arterial calcification - Generalized arterial calcification of
infancy - Arterial calcification - Fetal hydrops - Cardiac failure
